ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.208-14C>T

gnomAD frequency: 0.00004  dbSNP: rs72550272
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127898 SCV000171484 benign not specified 2014-04-24 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV002055790 SCV002456267 likely benign Brugada syndrome 5 2023-10-05 criteria provided, single submitter clinical testing

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